Spina bifida

Diagnosis

Tests before the birth of a baby, known as prenatal screening, can check for spina bifida and other conditions. The tests aren't perfect. Some people who have positive blood tests have babies without spina bifida. Even if the results are negative, there's still a small chance that spina bifida is present. Talk with your healthcare professional about prenatal testing, its risks and what the results mean.

Blood tests

Spina bifida can be screened with blood tests during pregnancy, but typically the diagnosis is made with an ultrasound exam.

• Maternal serum alpha-fetoprotein (MSAFP) test. For the MSAFP test, a sample of blood is drawn and tested for alpha-fetoprotein (AFP). This is a protein produced by the baby. It's typical for a small amount of AFP to cross the placenta and enter the pregnant parent's bloodstream. But high levels of AFP suggest that the baby may have a neural tube defect such as spina bifida. However, high levels of AFP don't always occur in spina bifida.
• Test to confirm high AFP levels. Varying levels of AFP can be caused by other factors such as a wrong estimate of the unborn baby's age or the presence of multiple babies. You may need a follow-up blood test to confirm the results. If levels of AFP are still high, you need further evaluation, including an ultrasound exam.
• Other blood tests. Your healthcare professional may perform the MSAFP test with two or three other blood tests. These tests screen for other conditions, such as trisomy 21 syndrome, also known as Down syndrome. They are commonly done with the MSAFP test.

Ultrasound

An ultrasound is the most accurate way to diagnose spina bifida in your baby before delivery. During pregnancy, an ultrasound may be done in the first 11 to 14 weeks of pregnancy, known as the first trimester. Or it may be done at 18 to 22 weeks, known as the second trimester. Spina bifida can be more accurately diagnosed during the second trimester ultrasound exam. This exam is crucial to identify and rule out conditions that may be present at birth.

An advanced ultrasound can detect symptoms of spina bifida, such as an open spine or features in the baby's brain. Sometimes ultrasound also can help your healthcare professional see how serious spina bifida is.

Amniocentesis

If the prenatal ultrasound confirms the diagnosis of spina bifida, your healthcare professional may request a test called amniocentesis. During this test, a needle is used to remove a sample of fluid from the amniotic sac that surrounds the baby. This exam may be important to rule out genetic diseases.

Talk to your healthcare professional about the potential risks of amniocentesis. There's a slight risk of loss of the pregnancy.

Treatment

Spina bifida treatment depends on how serious the condition is in your baby. Spina bifida occulta often doesn't need any treatment at all, but other types of spina bifida do.

Surgery before birth

Nerve function in babies with spina bifida can get worse if it's not treated. Prenatal surgery for spina bifida, also known as fetal surgery, takes place before the 26th week of pregnancy. Surgeons open the pregnant person's stomach and then the womb, also known as the uterus. The unborn baby's spinal cord is repaired. Then the surgeon closes the uterus and stomach. Sometimes this procedure can be done less invasively with a special surgical tool called a fetoscope. Instruments are inserted into the uterus through tiny ports to perform surgery on the unborn baby.

Research suggests that children with spina bifida who have fetal surgery may have less disability and be less likely to need crutches or other walking devices. Fetal surgery also may lower the risk of hydrocephalus. Ask your healthcare professional whether this procedure may be right for you. Ask about the potential benefits. Also ask about the risks to you and your baby, such as premature delivery and other complications.

It's important to have a comprehensive evaluation to determine whether fetal surgery can be done. This specialized surgery should only be done at a healthcare facility with experienced fetal surgery experts, a multispecialty team and neonatal intensive care. Typically, the team includes a fetal surgeon, a pediatric neurosurgeon, a maternal-fetal medicine specialist, a fetal cardiologist and a neonatologist.

Cesarean birth

Many babies with myelomeningocele tend to be in a feet-first position, known as breech. Cesarean birth may be a safer way to deliver if your baby is breech or has a large cyst or sac.

Surgery after birth

Myelomeningocele requires surgery to close the opening in the baby's back within 72 hours of birth. Early surgery can help lower the risk of infection associated with the exposed nerves. It also may help protect the spinal cord from more trauma.

During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin. At the same time, the neurosurgeon may place a shunt in the baby's brain to control hydrocephalus.

Treatment for complications

In babies with myelomeningocele, nerve damage that can't be repaired has likely already occurred in the uterus. Ongoing care from a multispecialty team of surgeons, physicians and therapists usually is needed. Babies with myelomeningocele may need more surgery for complications. Complications can include weak legs, bladder and bowel issues, or hydrocephalus. Treatment typically begins soon after birth.

Treatment options may include:

• Walking and mobility aids. Some babies may start exercises to prepare their legs for walking with braces or crutches when the babies are older. Some children may need walkers or a wheelchair. Mobility aids, along with regular physical therapy, can help a child become independent. Even children who need a wheelchair can learn to function well and become self-sufficient.

• Bowel and bladder management. Routine bowel and bladder evaluations and management help reduce the risk of organ damage and illness. Evaluations include X-rays, kidney scans, ultrasounds, blood tests and bladder function studies. These evaluations are more frequent in the first few years of life and are done less often as children grow. A specialist in pediatric urology with experience in performing surgery on children with spina bifida may offer the most effective management options.

  Bowel management may include oral medicines, suppositories, enemas, surgery or a combination of these approaches. Bladder management may include medicines, catheters to empty the bladder, surgery or a combination of treatments.

• Surgery for hydrocephalus. Most babies with myelomeningocele need surgery to place a tube that allows fluid in the brain to drain into another part of the body. The tube is called a ventricular shunt. It may be placed just after birth, during the surgery to close the sac on the back. Or it may be placed later as fluid builds up.

  A less invasive procedure called endoscopic third ventriculostomy is an option for some babies. But certain criteria must be met before this procedure is done. The surgeon uses a small video camera to see inside the brain. The surgeon then makes a hole in the bottom of or between brain cavities. This allows cerebrospinal fluid to flow out of the brain.

• Treatment and management of other complications. Special equipment such as bath chairs, commode chairs and standing frames may help with daily functioning. Most spina bifida complications can be treated or managed to improve quality of life. These include orthopedic complications, a tethered spinal cord, GI issues, skin conditions and other complications.

Ongoing care

Children with spina bifida need close follow-up care and observation. Their healthcare professionals evaluate their growth, the need for vaccinations and general medical issues. Medical care is coordinated among specialists.

Children with spina bifida often need treatment and ongoing care from healthcare professionals with expertise in:

• Physical medicine and rehabilitation.
• Neurology.
• Neurosurgery.
• Urology.
• Orthopedics.
• Physical therapy.
• Occupational therapy.
• Special education.
• Social work.
• Nutrition.

Parents and other caregivers are a key part of the team. They can learn how to help manage a child's condition and how to encourage and support the child emotionally and socially.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Coping and support

News that your newborn child has a condition such as spina bifida can naturally cause you to feel many emotions. It's important to know that people with spina bifida live active, productive and full lives — especially with encouragement and support from loved ones. Children with spina bifida can go to college, hold jobs and have families.

Special accommodations may be necessary along the way. But encourage your child to be as independent as possible.

Independent mobility is an important and appropriate goal for all children with spina bifida. This may mean walking with or without braces, using walking aids such as canes or crutches, or using a wheelchair. Encourage your child to engage in activities with peers. Caregivers can help adjust activities to accommodate physical disabilities.

Many children with spina bifida have typical intelligence, but some may need educational help for learning disabilities. They may have trouble with attention, concentration or language that requires treatment from professionals outside of school.

As for any child with a chronic medical condition, children with spina bifida may benefit from meeting with mental health professionals. A child psychologist and other mental health professionals can help with adjustment and coping. Most children with spina bifida are resilient and adapt to their challenges with support from their parents, teachers and other caregivers.

If your child has spina bifida, you may benefit from finding a support group of other parents who are dealing with the condition. Talking with others who understand the challenges of living with spina bifida can be helpful.

Preparing for your appointment

Your healthcare professional may suspect or diagnose your baby's condition during your pregnancy. You'll likely consult with a multispecialty team of physicians, surgeons and physical therapists at a center that specializes in spina bifida treatment.

Here's some information to help you get ready for your appointment and know what to expect.

What you can do

To prepare for the appointment:

• Be aware of any pre-appointment instructions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance. For example, you might need to drink extra water before an ultrasound.
• Make a list of all medicines, vitamins, herbs and supplements that you took before and during your pregnancy, and how much.
• Ask a family member or friend to come with you, if possible. Sometimes it can be hard to remember all the information provided to you during an appointment. Someone who comes with you may remember something that you missed or forgot.
• Create a list of questions to ask, starting with the most important.

For spina bifida, some basic questions to ask include:

• Is spina bifida present and how serious is it?
• Is there evidence of a buildup of fluid in my baby's brain?
• Can my baby be treated during pregnancy?
• What will be done for my baby immediately after birth?
• Will the treatment cure my child?
• Will there be any lasting effects?
• Who can I contact to find out about community resources that may be able to help my child?
• What is the likelihood of this happening again in future pregnancies?
• How can I keep this from happening again in the future?
• Are there any brochures or other printed material that I can have? What websites do you recommend?

In addition to the questions that you've prepared, don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Being ready to answer questions from your healthcare professional may give you time to go over any points you want to focus on. You may be asked:

• Have you ever had a child with spina bifida or other conditions at birth?
• Is there a family history of spina bifida?
• Did you take folic acid, also known as vitamin B-9, before and during your pregnancy?
• Are you taking any anti-seizure medicines, or were you taking them at the beginning of your pregnancy?
• If necessary, are you able to travel to a facility that offers specialized care?